DLG5

Chr 10AR

discs large MAGUK scaffold protein 5

Also known as: LP-DLG, P-DLG5, PDLG, YUVOB

NCBI Gene: 9231 ENSG00000151208 UniProt: Q8TDM6 OMIM: 604090

This gene encodes a scaffolding protein that regulates the Hippo signaling pathway, controls cell proliferation and epithelial polarity, and plays important roles in dendritic spine formation and synaptogenesis in cortical neurons. Mutations cause Yuksel-Vogel-Bauser syndrome, which follows autosomal recessive inheritance. The gene is highly constrained against loss-of-function mutations in the general population.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Yuksel-Vogel-Bauser syndromeMIM #620703

UniProtYuksel-Vogel-Bauer syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.26

LOEUF· LoF intol.

LOF

Mechanism· G2P